Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution-Reference-Cited by-同舟云学术

Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

Published:2019-01-09 Issue:4 Volume:40 Page:404-412
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Loureiro Joana R.¹²³,Oliveira Cláudia L.¹²,Mota Carolina¹²,Castro Ana F.¹²,Costa Cristina⁴,Loureiro José L.²⁵⁶,Coutinho Paula²⁵,Martins Sandra⁷⁸,Sequeiros Jorge²³⁵,Silveira Isabel¹²^ORCID

Affiliation:

1. Genetics of Cognitive Dysfunction Laboratoryi3S‐Instituto de Investigação e Inovação em SaúdeUniversidade do Porto Porto Portugal

2. IBMC‐ Institute for Molecular and Cell BiologyUniversidade do Porto Porto Portugal

3. ICBASUniversidade do Porto Porto Portugal

4. Department of NeurologyHospital Prof. Doutor Fernando Fonseca Amadora Portugal

5. UnIGENei3S‐Instituto de Investigação e Inovação em SaúdeUniversidade do Porto Porto Portugal

6. Department of NeurologyHospital São Sebastião Feira Portugal

7. Population Genetics & Evolutioni3S‐Instituto de Investigação e Inovação em SaúdeUniversidade do Porto Porto Portugal

8. IPATIMUP ‐ Institute of Molecular Pathology and ImmunologyUniversity of Porto Porto Portugal

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23704

Reference49 articles.

1. Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes

2. Detection of Slipped-DNAs at the Trinucleotide Repeats of the Myotonic Dystrophy Type I Disease Locus in Patient Tissues

3. Aligning Multiple Genomic Sequences With the Threaded Blockset Aligner

4. Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

5. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

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